Seymour Packman, MD

Title(s)Professor Emeritus, Pediatrics
SchoolSchool of Medicine
Address600 16th Street, #001
San Francisco CA 94158
Phone415-476-2871
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    Collapse Biography 
    Collapse Education and Training
    Washington University School of Medicine, St Louis, MissouriM.D.1968Medicine
    Washington University School of Medicine, Department of Internal Medicine, St Louis, Missouri1969Fellowship, Genetics
    St Louis Children's Hospital, St Louis, Missouri1971Internship, Residency in Pediatrics
    NIH-NICHHD , Bethesda, Maryland1974Research Associate, Laboratory of Molecular Genetics
    Yale University School of Medicine, Department of Human Genetics, New Haven, Connecticut1977Fellowship, Medical Genetics
    Collapse Awards and Honors
    March of Dimes Birth Defects Foundation1977  - 1979Basil O'Connor Grant Award
    American College of Medical GeneticsFounding Fellow
    Society for Pediatric Research, and American Pediatric Societyelected to membership
    March of Dimes Birth Defects FoundationSpecial Recognition Award

    Collapse Research 
    Collapse Research Activities and Funding
    Inherited Disorders of Copper Transport
    NIH NIADDK (RO1) Jul 1, 1994 - Aug 31, 2003
    Role: Co-Principal Investigator
    Genetic Disorders of Copper Transport
    March of Dimes Birth Defects Foundation Jul 1, 1994 - Aug 31, 1997
    Role: Prinicipal Investigator
    Newborn Screening Program Area Genetics Center
    Genetic Disease Branch, State of California Jul 1, 1987 - Aug 31, 2000
    Role: Prinicipal Investigator
    GENETIC DISORDERS OF MAMMALIAN BIOTIN METABOLISM
    NIH/NIADDK R01AM031366Aug 1, 1983 - Jul 31, 1987
    Role: Principal Investigator
    Inborn Errors of Biotin Metabolism
    March of Dimes Birth Defects Foundation Jul 1, 1982 - Aug 31, 1988
    Role: Prinicipal Investigator
    PEDIATRIC CLINICAL RESEARCH CENTER
    NIH M01RR001271Dec 1, 1981 - Mar 31, 2007
    Role: Co-Investigator
    Copper Metabolism in the Mottled Mouse
    NIH NIGMS (RO1) Jul 1, 1980 - Dec 31, 1984
    Role: Prinicipal Investigator
    Inherited Hypocupremia - Menkes Disease
    NIH Liver Core Center Jul 1, 1980 - Aug 31, 1981
    Role: Co-Principal Investigator
    Regulation of Intracellular Enzyme Turnover
    NIH NIADDK (RO1) Jul 1, 1979 - Jul 31, 1983
    Role: Principal Investigator
    Basil O'Connor Starter Research Grant
    March of Dimes Birth Defects Foundation Jul 1, 1977 - Aug 31, 1979
    Role: Principal Investigator
    Postdoctoral Training in Medical Genetics
    NIH T32GM007085Jul 1, 1975 - Jun 30, 2015
    Role: Co-Principal Investigator
    General Clinical Research Center
    NIH M01RR000079Dec 1, 1974 - Mar 31, 2009
    Role: Co-Investigator

    Collapse Bibliographic 
    Collapse Publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help. to make corrections and additions.
    Newest   |   Oldest   |   Most Cited   |   Most Discussed   |   Timeline   |   Field Summary   |   Plain Text
    Altmetrics Details PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Clinical outcomes after 4.5 years of eliglustat therapy for Gaucher disease type 1: Phase 3 ENGAGE trial final results. Am J Hematol. 2021 09 01; 96(9):1156-1165. Mistry PK, Lukina E, Ben Turkia H, Shankar SP, Baris Feldman H, Ghosn M, Mehta A, Packman S, Lau H, Petakov M, Assouline S, Balwani M, Danda S, Hadjiev E, Ortega A, Foster MC, Gaemers SJM, Peterschmitt MJ. PMID: 34161616; PMCID: PMC8457136.
      View in: PubMed   Mentions: 12     Fields:    Translation:HumansCTClinical Trials
    2. Gaucher disease and SARS-CoV-2 infection: Emerging management challenges. Mol Genet Metab. 2020 07; 130(3):164-169. Mistry P, Balwani M, Barbouth D, Burrow TA, Ginns EI, Goker-Alpan O, Grabowski GA, Kartha RV, Kishnani PS, Lau H, Lee CU, Lopez G, Maegawa G, Packman S, Prada C, Rosenbloom B, Lal TR, Schiffmann R, Weinreb N, Sidransky E. PMID: 32471800; PMCID: PMC7211677.
      View in: PubMed   Mentions: 14     Fields:    Translation:HumansCellsPHPublic Health
    3. Quality of life and psychological functioning of pediatric and young adult patients with Gaucher disease, type 1. Am J Med Genet A. 2020 05; 182(5):1130-1142. Alioto AG, Gomez R, Moses J, Paternostro J, Packman S, Packman W. PMID: 32125090.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    4. An immune tolerance approach using transient low-dose methotrexate in the ERT-naïve setting of patients treated with a therapeutic protein: experience in infantile-onset Pompe disease. Genet Med. 2019 04; 21(4):887-895. Kazi ZB, Desai AK, Troxler RB, Kronn D, Packman S, Sabbadini M, Rizzo WB, Scherer K, Abdul-Rahman O, Tanpaiboon P, Nampoothiri S, Gupta N, Feigenbaum A, Niyazov DM, Sherry L, Segel R, McVie-Wylie A, Sung C, Joseph AM, Richards S, Kishnani PS. PMID: 30214072; PMCID: PMC6417984.
      View in: PubMed   Mentions: 22     Fields:    Translation:Humans
    5. Corrigendum to "Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases" [Mol. Genet. Metab. 118 (2016) 206-213]. Mol Genet Metab. 2018 12; 125(4):360. Cassiman D, Packman S, Bembi B, Turkia HB, Al-Sayed M, Schiff M, Imrie J, Mabe P, Takahashi T, Mengel KE, Giugliani R, Cox GF. PMID: 29129654.
      View in: PubMed   Mentions: 1     Fields:    
    6. Outcomes after 18 months of eliglustat therapy in treatment-naïve adults with Gaucher disease type 1: The phase 3 ENGAGE trial. Am J Hematol. 2017 Nov; 92(11):1170-1176. Mistry PK, Lukina E, Ben Turkia H, Shankar SP, Baris H, Ghosn M, Mehta A, Packman S, Pastores G, Petakov M, Assouline S, Balwani M, Danda S, Hadjiev E, Ortega A, Gaemers SJM, Tayag R, Peterschmitt MJ. PMID: 28762527; PMCID: PMC5656936.
      View in: PubMed   Mentions: 35     Fields:    Translation:HumansCTClinical Trials
    7. Ocular findings in a patient with fucosidosis. Am J Ophthalmol Case Rep. 2016 Dec; 4:83-86. Sánchez LR, Oatts JT, Duncan JL, Packman S, Moore AT. PMID: 29503934; PMCID: PMC5757485.
      View in: PubMed   Mentions: 2  
    8. Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat. N Engl J Med. 2016 Aug 11; 375(6):545-55. Germain DP, Hughes DA, Nicholls K, Bichet DG, Giugliani R, Wilcox WR, Feliciani C, Shankar SP, Ezgu F, Amartino H, Bratkovic D, Feldt-Rasmussen U, Nedd K, Sharaf El Din U, Lourenco CM, Banikazemi M, Charrow J, Dasouki M, Finegold D, Giraldo P, Goker-Alpan O, Longo N, Scott CR, Torra R, Tuffaha A, Jovanovic A, Waldek S, Packman S, Ludington E, Viereck C, Kirk J, Yu J, Benjamin ER, Johnson F, Lockhart DJ, Skuban N, Castelli J, Barth J, Barlow C, Schiffmann R. PMID: 27509102.
      View in: PubMed   Mentions: 186     Fields:    Translation:HumansCTClinical Trials
    9. Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases. Mol Genet Metab. 2016 07; 118(3):206-213. Cassiman D, Packman S, Bembi B, Turkia HB, Al-Sayed M, Schiff M, Imrie J, Mabe P, Takahashi T, Mengel KE, Giugliani R, Cox GF. PMID: 27198631.
      View in: PubMed   Mentions: 46     Fields:    Translation:Humans
    10. Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease. J Med Genet. 2015 May; 52(5):353-8. Germain DP, Charrow J, Desnick RJ, Guffon N, Kempf J, Lachmann RH, Lemay R, Linthorst GE, Packman S, Scott CR, Waldek S, Warnock DG, Weinreb NJ, Wilcox WR. PMID: 25795794; PMCID: PMC4413801.
      View in: PubMed   Mentions: 114     Fields:    Translation:HumansCTClinical Trials
    11. Effect of oral eliglustat on splenomegaly in patients with Gaucher disease type 1: the ENGAGE randomized clinical trial. JAMA. 2015 Feb 17; 313(7):695-706. Mistry PK, Lukina E, Ben Turkia H, Amato D, Baris H, Dasouki M, Ghosn M, Mehta A, Packman S, Pastores G, Petakov M, Assouline S, Balwani M, Danda S, Hadjiev E, Ortega A, Shankar S, Solano MH, Ross L, Angell J, Peterschmitt MJ. PMID: 25688781; PMCID: PMC4962880.
      View in: PubMed   Mentions: 63     Fields:    Translation:HumansCTClinical Trials
    12. Health-Related Quality of Life in Patients with MPS II. J Genet Couns. 2015 Aug; 24(4):635-44. Needham M, Packman W, Quinn N, Rappoport M, Aoki C, Bostrom A, Cordova M, Macias S, Morgan C, Packman S. PMID: 25395377.
      View in: PubMed   Mentions: 13     Fields:    Translation:Humans
    13. MPS II: adaptive behavior of patients and impact on the family system. J Genet Couns. 2014 Jun; 23(3):330-8. Needham M, Packman W, Rappoport M, Quinn N, Cordova M, Macias S, Morgan C, Packman S. PMID: 24190099.
      View in: PubMed   Mentions: 12     Fields:    Translation:Humans
    14. Adult-Onset Fatal Neurohepatopathy in a Woman Caused by MPV17 Mutation. JIMD Rep. 2014; 13:37-41. Mendelsohn BA, Mehta N, Hameed B, Pekmezci M, Packman S, Ralph J. PMID: 24190800; PMCID: PMC4110326.
      View in: PubMed   Mentions: 6  
    15. Living with Gaucher disease: Emotional health, psychosocial needs and concerns of individuals with Gaucher disease. Am J Med Genet A. 2010 Aug; 152A(8):2002-10. Packman W, Crosbie TW, Behnken M, Eudy K, Packman S. PMID: 20635362.
      View in: PubMed   Mentions: 10     Fields:    Translation:Humans
    16. Functional characterization of the novel intronic nucleotide change c.288+9C>T within the BCKDHA gene: understanding a variant presentation of maple syrup urine disease. J Inherit Metab Dis. 2010 Dec; 33 Suppl 3:S191-8. Fernández-Guerra P, Navarrete R, Weisiger K, Desviat LR, Packman S, Ugarte M, Rodríguez-Pombo P. PMID: 20431954.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansCells
    17. Cardiovascular manifestations of Fabry disease: relationships between left ventricular hypertrophy, disease severity, and alpha-galactosidase A activity. Eur Heart J. 2010 May; 31(9):1088-97. Wu JC, Ho CY, Skali H, Abichandani R, Wilcox WR, Banikazemi M, Packman S, Sims K, Solomon SD. PMID: 20061327; PMCID: PMC2912636.
      View in: PubMed   Mentions: 31     Fields:    Translation:HumansCTClinical Trials
    18. Psychosocial aspects of patients with Niemann-Pick disease, type B. Am J Med Genet A. 2009 Nov; 149A(11):2430-6. Henderson SL, Packman W, Packman S. PMID: 19877061.
      View in: PubMed   Mentions: 17     Fields:    Translation:Humans
    19. Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy. Nephrol Dial Transplant. 2009 Jul; 24(7):2102-11. Schiffmann R, Warnock DG, Banikazemi M, Bultas J, Linthorst GE, Packman S, Sorensen SA, Wilcox WR, Desnick RJ. PMID: 19218538; PMCID: PMC2698092.
      View in: PubMed   Mentions: 135     Fields:    Translation:Humans
    20. Acute fatal presentation of ornithine transcarbamylase deficiency in a previously healthy male. Hepatol Int. 2008 09; 2(3):390-4. Klein OD, Kostiner DR, Weisiger K, Moffatt E, Lindeman N, Goodman S, Tuchman M, Packman S. PMID: 19669271; PMCID: PMC2716892.
      View in: PubMed   Mentions: 13     Fields:    
    21. Psychosocial issues in families affected by maple syrup urine disease. J Genet Couns. 2007 Dec; 16(6):799-809. Packman W, Henderson SL, Mehta I, Ronen R, Danner D, Chesterman B, Packman S. PMID: 17703353.
      View in: PubMed   Mentions: 12     Fields:    Translation:Humans
    22. Agalsidase-beta therapy for advanced Fabry disease: a randomized trial. Ann Intern Med. 2007 Jan 16; 146(2):77-86. Banikazemi M, Bultas J, Waldek S, Wilcox WR, Whitley CB, McDonald M, Finkel R, Packman S, Bichet DG, Warnock DG, Desnick RJ, Fabry Disease Clinical Trial Study Group. PMID: 17179052.
      View in: PubMed   Mentions: 174     Fields:    Translation:Humans
    23. Functional genetic diversity in the high-affinity carnitine transporter OCTN2 (SLC22A5). Mol Pharmacol. 2006 Nov; 70(5):1602-11. Urban TJ, Gallagher RC, Brown C, Castro RA, Lagpacan LL, Brett CM, Taylor TR, Carlson EJ, Ferrin TE, Burchard EG, Packman S, Giacomini KM. PMID: 16931768.
      View in: PubMed   Mentions: 21     Fields:    Translation:HumansCells
    24. Pediatric malignancies. Case 2. Peripheral T-cell lymphoma in an adolescent with unsuspected Gaucher disease. J Clin Oncol. 2005 Jul 20; 23(21):4792-3. Sanchez R, Etzell J, Kim G, Packman S, Fairley C, Goldsby R. PMID: 16034056.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    25. Marinesco-Sjögren syndrome in a male with mild dysmorphism. Am J Med Genet A. 2005 Mar 01; 133A(2):197-201. Slavotinek A, Goldman J, Weisiger K, Kostiner D, Golabi M, Packman S, Wilcox W, Hoyme HE, Sherr E. PMID: 15633176.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    26. Musculoskeletal manifestations of Hurler syndrome: long-term follow-up after bone marrow transplantation. J Pediatr Orthop. 2004 Jan-Feb; 24(1):97-101. Weisstein JS, Delgado E, Steinbach LS, Hart K, Packman S. PMID: 14676543.
      View in: PubMed   Mentions: 56     Fields:    Translation:Humans
    27. Brain MR imaging in neonatal hyperammonemic encephalopathy resulting from proximal urea cycle disorders. AJNR Am J Neuroradiol. 2003 Jun-Jul; 24(6):1184-7. Takanashi J, Barkovich AJ, Cheng SF, Weisiger K, Zlatunich CO, Mudge C, Rosenthal P, Tuchman M, Packman S. PMID: 12812952; PMCID: PMC8148992.
      View in: PubMed   Mentions: 36     Fields:    Translation:Humans
    28. T1 hyperintensity in the pulvinar: key imaging feature for diagnosis of Fabry disease. AJNR Am J Neuroradiol. 2003 May; 24(5):916-21. Takanashi J, Barkovich AJ, Dillon WP, Sherr EH, Hart KA, Packman S. PMID: 12748094; PMCID: PMC7975809.
      View in: PubMed   Mentions: 24     Fields:    Translation:Humans
    29. Brain MR imaging in acute hyperammonemic encephalopathy arising from late-onset ornithine transcarbamylase deficiency. AJNR Am J Neuroradiol. 2003 Mar; 24(3):390-3. Takanashi J, Barkovich AJ, Cheng SF, Kostiner D, Baker JC, Packman S. PMID: 12637287; PMCID: PMC7973603.
      View in: PubMed   Mentions: 26     Fields:    Translation:Humans
    30. Null mutations in the N-acetylglutamate synthase gene associated with acute neonatal disease and hyperammonemia. Hum Genet. 2003 Apr; 112(4):364-8. Caldovic L, Morizono H, Panglao MG, Cheng SF, Packman S, Tuchman M. PMID: 12594532.
      View in: PubMed   Mentions: 23     Fields:    Translation:HumansCells
    31. Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med. 2003 Feb 18; 138(4):338-46. Desnick RJ, Brady R, Barranger J, Collins AJ, Germain DP, Goldman M, Grabowski G, Packman S, Wilcox WR. PMID: 12585833.
      View in: PubMed   Mentions: 202     Fields:    Translation:Humans
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